当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Missense mutations and the magnitude of functional deficit: the example of factor IX.

Missense mutations and the magnitude of functional deficit: the example of factor IX.

Abstract：

:Some missense changes are compatible with normal protein function while others compromise essential aspects of protein maturation, specific activity, or stability. For those missense changes that alter function in the intact organism, how likely is it for the mutated protein to retain appreciable residual activity? By genetic analysis of patients with hemophilia B of known severity, this question can be addressed for missense mutations that reduce factor IX activity by fourfold or more below the average. We estimate that missense changes cause only 59% of moderate and severe disease, but these mutations are almost always (95%) of independent origin. In contrast, missense mutations are found in virtually all (97%) families with mild disease, but only a minority of these (41%) are of independent origin. From the aggregate data, we estimate that most (71%) of the independent deleterious missense mutations cause at least a 20-fold decrease in factor IX activity.

journal_name

Hum Genet

journal_title

Human genetics

authors

Sommer SS,Bowie EJ,Ketterling RP,Bottema CD

doi

10.1007/BF00220543

keywords:

subject

Has Abstract

pub_date

1992-05-01 00:00:00

pages

295-7

issue

3

eissn

0340-6717

issn

1432-1203

journal_volume

89

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Increased frequency of specific alleles of the c-Ha-ras gene in Japanese cancer patients.

    abstract：:We have examined the c-Ha-ras locus in 145 cancer patients of a mixed group and 164 normal individuals in Japan for restriction fragment length polymorphisms and compared the allele distributions in normal and cancer populations. The c-Ha-ras gene is highly polymorphic in Japanese as previously reported in Caucasians....

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00282164

    authors： Honda K,Ishizaki K,Ikenaga M,Toguchida J,Inamoto T,Tanaka K,Ozawa K

    更新日期：1988-08-01 00:00:00

  • Cytologic demonstration of differential activity of rRNA gene clusters in different human tissues.

    abstract：:rRNA gene activity was evaluated by cytologic methods in cultured human cells from two different tissues grown under controlled experimental conditions. The modal and average numbers of silver positive nucleolus organizers (NOs) per cell as well as the distribution of cells with different numbers of silver positive NO...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00293027

    authors： de Capoa A,Marlekaj P,Baldini A,Rocchi M,Archidiacono N

    更新日期：1985-01-01 00:00:00

  • Delineation of marker chromosomes by reverse chromosome painting using only a small number of DOP-PCR amplified microdissected chromosomes.

    abstract：:A new procedure for determining the chromosomal origin of marker chromosomes has been carried out. The origin of marker chromosomes that were unidentifiable by standard banding techniques could be verified by reverse chromosome painting. This technique includes microdissection, followed by in vitro DNA amplification a...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201567

    authors： Viersbach R,Schwanitz G,Nöthen MM

    更新日期：1994-06-01 00:00:00

  • Variation in estimated recombination rates across human populations.

    abstract：:Recently it has been reported that recombination hotspots appear to be highly variable between humans and chimpanzees, and there is evidence for between-person variability in hotspots, and evolutionary transience. To understand the nature of variation in human recombination rates, it is important to describe patterns ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0391-6

    authors： Graffelman J,Balding DJ,Gonzalez-Neira A,Bertranpetit J

    更新日期：2007-11-01 00:00:00

  • Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.

    abstract：:The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci w...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00218841

    authors： Kuwano A,Morimoto Y,Nagai T,Fukushima Y,Ohashi H,Hasegawa T,Kondo I

    更新日期：1996-01-01 00:00:00

  • Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

    abstract：:Bardet-Biedl syndrome (BBS) is a rare oligogenic disorder exhibiting both clinical and genetic heterogeneity. Although the BBS phenotype is variable both between and within families, the syndrome is characterized by the hallmarks of developmental and learning difficulties, post-axial polydactylia, obesity, hypogenital...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-006-0197-y

    authors： Eichers ER,Abd-El-Barr MM,Paylor R,Lewis RA,Bi W,Lin X,Meehan TP,Stockton DW,Wu SM,Lindsay E,Justice MJ,Beales PL,Katsanis N,Lupski JR

    更新日期：2006-09-01 00:00:00

  • Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes.

    abstract：:In situ hybridization experiments were carried out with two clones, YACG 35 and 2.8, which had been selected from two genomic libraries strongly enriched for the human Y chromosome. Besides the human Y chromosome, both sequences strongly hybridized to the human X chromosome, with few minor binding sites on autosomes. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00286513

    authors： Rappold GA,Cremer T,Cremer C,Back W,Bogenberger J,Cooke HJ

    更新日期：1984-01-01 00:00:00

  • Fine mapping of the 1q21 breakpoint of the papillary renal cell carcinoma-associated (X;1) translocation.

    abstract：:A combination of Southern blot analysis on a panel of tumor-derived somatic cell hybrids and fluorescence in situ hybridization (FISH) techniques was used to map a series of DNA markers relative to the 1q21 breakpoint of the renal cell carcinoma (RCC)-associated (X;1)-(p11;q21) translocation. This breakpoint maps betw...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050153

    authors： Weterman MA,Wilbrink M,Dijkhuizen T,van den Berg E,Geurts van Kessel A

    更新日期：1996-07-01 00:00:00

  • Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application.

    abstract：:Fluorescence in situ hybridization (FISH) of chromosome 21 specific yeast artificial chromosome (YAC) clones after Alu-PCR (polymerase chain reaction) amplification has been used to find new region-specific DNA probes for the heterochromatic region of chromosome 21. Six overlapping YAC clones from a pericentromeric co...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00225195

    authors： Yurov YB,Laurent AM,Marcais B,Vorsanova SG,Roizes G

    更新日期：1995-03-01 00:00:00

  • Complete detection of mutations in cystic fibrosis patients of Native American origin.

    abstract：:An increased incidence of cystic fibrosis (CF) has been reported in some populations of Native Americans of the Southwest such as the Pueblo, which is a genetic isolate. As the most common mutation found in Caucasians (delta F508) was absent and only one chromosome carried the G542X mutation, we decided to analyze the...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00206956

    authors： Mercier B,Raguénès O,Estivill X,Morral N,Kaplan GC,McClure M,Grebe TA,Kessler D,Pignatti PF,Marigo C

    更新日期：1994-12-01 00:00:00

  • Detection of beta-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique.

    abstract：:Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electropho...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274004

    authors： Winichagoon P,Kownkon J,Yenchitsomanus P,Thonglairoam V,Siritanaratkul N,Fucharoen S

    更新日期：1989-07-01 00:00:00

  • Incomplete trisomy 22. III. Mosaic-trisomy 22 and the problem of full trisomy 22.

    abstract：:A severely growth-retarded female newborn is described, who dies a few hours after birth. About half of the clones and metaphases from an amniotic fluid cell culture (set up at 35th week of gestation) and only 1/27 of the metaphases from a blood lymphocyte culture contained an additional No. 22 chromosome. Abnormal fi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274677

    authors： Schinzel A

    更新日期：1981-01-01 00:00:00

  • Chromosome heteromorphisms in the Japanese. II. Nucleolus organizer regions of variant chromosomes in D and G groups.

    abstract：:The nucleolus organizer regions (NORs) of variant D- and G-group chromosomes characterized by enlargements of the short arms including secondary constrictions and satellites, were examined using the silver-staining method. Of a total of nine variants examined, four were found to have double Ag-stained NORs in the enla...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291776

    authors： Sofuni T,Tanabe K,Awa AA

    更新日期：1980-01-01 00:00:00

  • Genetic changes in mammalian cells reminiscent of an SOS response.

    abstract：:Prior to the isolation of mammalian DNA repair genes and identification of their gene products, the comparison between the bacterial SOS response and various similar reactions in mammalian cells remains rather speculative. The increasing number of observed phenomena including enhanced DNA repair, virus induction, indu...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291392

    authors： Herrlich P,Mallick U,Ponta H,Rahmsdorf HJ

    更新日期：1984-01-01 00:00:00

  • MECP2 mutations in Rett syndrome adversely affect lymphocyte growth, but do not affect imprinted gene expression in blood or brain.

    abstract：:Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2, encoding methyl-CpG-binding protein 2 (MeCP2). As female somatic cells are mosaic for expression of mutant MECP2, we performed single cell cloning of T lymphocytes from four RTT patients with MECP2 mutations to isolat...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-002-0724-4

    authors： Balmer D,Arredondo J,Samaco RC,LaSalle JM

    更新日期：2002-06-01 00:00:00

  • Ring chromosome 15 syndrome.

    abstract：:Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and f...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278290

    authors： Fryns JP,Timmermans J,Hondt FD,François B,Emmery L,van den Berghe H

    更新日期：1979-09-02 00:00:00

  • Population genetic characteristics of the D1S80 locus in seven human populations.

    abstract：:We have analyzed the allele frequency distribution at the highly polymorphic variable number of tandem repeat (VNTR) locus D1S80 (pMCT118) in seven ethnic populations (namely, New Guinea Highlanders of Papua New Guinea, Dogrib Indians of Canada, Pehuenche Indians of Chile, American and Western Samoans, Kacharis of Nor...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00208279

    authors： Deka R,DeCroo S,Jin L,McGarvey ST,Rothhammer F,Ferrell RE,Chakraborty R

    更新日期：1994-09-01 00:00:00

  • Origin of extra chromosome in Patau syndrome.

    abstract：:Five live-born infants with Patau syndrome were studied for the nondisjunctional origin of the extra chromosome. Transmission modes of chromosomes 13 from parents to a child were determined using both QFQ- and RFA-heteromorphisms as markers, and the origin was ascertained in all of the patients. The extra chromosome h...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00418400

    authors： Ishikiriyama S,Niikawa N

    更新日期：1984-01-01 00:00:00

  • Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.

    abstract：:In a large kindred with X-linked Menkes disease, linkage studies were performed with a restriction fragment length polymorphism (RFLP) that had been found with a cloned hybridisation probe from the proximal short arm of the X chromosome. This RFLP was considered as a potential genetic marker since the Menkes gene seem...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00327110

    authors： Wieacker P,Horn N,Pearson P,Wienker TF,McKay E,Ropers HH

    更新日期：1983-01-01 00:00:00

  • Down syndrome in two siblings with 47,XY,+21 and 46,XY/46,XY,-21,+t(21q;21q).

    abstract：:This is the first report in the literature of siblings affected with Down syndrome; one sibling had a nondisjunction of chromosome 21 and the other a (21q;21q) translocation. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273853

    authors： Der Kaloustian VM,Masri R,Khudr A,Talj F,Libbus B,Nabulsi M,Khouri FP

    更新日期：1987-01-01 00:00:00

  • Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

    abstract：:Anderson Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. Hemizygous males and some heterozygous females develop renal failure and cardiovascular complications in early adult life. We have investigated six large UK families to assess the possible linkage of five polym...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00284482

    authors： MacDermot KD,Morgan SH,Cheshire JK,Wilson TM

    更新日期：1987-11-01 00:00:00

  • Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level.

    abstract：:Amplification of the beta-globin gene by the polymerase chain reaction (PCR) and direct sequencing were used for a fast and reliable identification of the beta-globin variant Hb D Los Angeles and revealed the predicted G----C substitution in codon 121. The same method showed the molecular defect in Hb Presbyterian to ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00196236

    authors： Schnee J,Aulehla-Scholz C,Eigel A,Horst J

    更新日期：1990-03-01 00:00:00

  • Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.

    abstract：:The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1123-9

    authors： Autere J,Moilanen JS,Finnilä S,Soininen H,Mannermaa A,Hartikainen P,Hallikainen M,Majamaa K

    更新日期：2004-06-01 00:00:00

  • Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).

    abstract：:Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms an...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00272387

    authors： Malcolm S,de Saint Basile G,Arveiler B,Lau YL,Szabo P,Fischer A,Griscelli C,Debre M,Mandel JL,Callard RE

    更新日期：1987-10-01 00:00:00

  • Mean corpuscular hemoglobin is not increased in Fmr1 knockout mice.

    abstract：:A slight increase in mean corpuscular hemoglobin (MCH) has been reported in erythrocytes from human fragile X patients. As it is difficult to perform case-controlled studies in patients with fragile X syndrome, we studied MCH in erythrocytes from transgenic mice with an Fmr1 knockout. None of the knockout mice showed ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00218832

    authors： Reyniers E,Van Bockstaele DR,De Boulle K,Kooy RF,Bakker CE,Oostra BA,Willems PJ

    更新日期：1996-01-01 00:00:00

  • The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

    abstract：:The objective of this study is to shed light on the phenotype and inheritance pattern of rare 13q33-q34 microdeletions. Appropriate cases were retrieved using local databases of two largest Israeli centers performing CMA analysis. In addition, literature search in PubMed, DECIPHER and ClinVar databases was performed. ...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-019-02048-y

    authors： Sagi-Dain L,Goldberg Y,Peleg A,Sukenik-Halevy R,Sofrin-Drucker E,Appelman Z,Josefsberg BYS,Ben-Shachar S,Vinkler C,Basel-Salmon L,Maya I

    更新日期：2019-10-01 00:00:00

  • A linkage study of acrokeratoelastoidosis. Possible mapping to chromosome 2.

    abstract：:As evidenced by a large pedigree with 21 affected members, acrokeratoelastoidosis (AKE) is an autosomal dominant skin disease (10185; McKusick 1978). Linkage with genetic markers already assigned to human chromosomes could help to map the gene for this disease. Therefore 22 markers were investigated in 61 members of t...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00284653

    authors： Greiner J,Krüger J,Palden L,Jung EG,Vogel F

    更新日期：1983-01-01 00:00:00

  • An estimate of genetic risk from 8-methoxypsoralen photochemotherapy.

    abstract：:A method based on a combination of cell culture and pharmacokinetic data is explored as a way of estimating the possible genetic risk to man from a mutagenic chemical. 8-methoxypsoralen, which is given to psoriasis patients as part of a photochemotherapy regime, is used, since it represents a 'real-life' situation and...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00277690

    authors： Bridges BA

    更新日期：1979-05-23 00:00:00

  • A case of 9p- syndrome.

    abstract：:An 8-month-old female child with the 9p- karyotype: 46,XX,del(9) (p22) is presented, being the first case from among Oriental people. She has many clinical features similar to those described in Caucasian cases. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00295813

    authors： Kuroki Y,Yokota S,Nakai H,Yamamoto Y,Matsui I

    更新日期：1977-08-31 00:00:00

  • Beta-globin gene polymorphism in Saudis--triple Hpa I fragments.

    abstract：:In an attempt to investigate beta-globin gene polymorphism in the Saudi population, DNA samples were analysed using restriction endonucleases, Mst II and Hpa I. Both beta A and beta S genes showed extensive polymorphism and were found to be linked to 13.0 kb, 7.6 kb, 7.0 kb, and 5.6 kb Hpa I fragments. Three DNA sampl...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00282555

    authors： el-Hazmi MA,Jabbar FA,Al-Swailem AR,Warsy AS

    更新日期：1986-11-01 00:00:00